Fujii, 1994: Overview of all reported PxMD-PDHA1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
n.a.
21
Yes
Gait ataxia
Dysarthria
Cognitive impairment
Cognitive impairment (interictal)
-Gait ataxia (interictal)
Ataxia
Ataxia (interictal)
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n.a.